KIDNEYSEQTM • IOWA INSTITUTE OF HUMAN GENETICS

For University of Iowa Hospitals and Clinics

health care providers.

KidneySeqTM

Iowa Institute of Human Genetics

Contact Iowa Institute of Human Genetics

University of Iowa

285 Newton Road, 5296 CBRB

Iowa City, IA 52242

Phone: (319) 353-3688Fax: 319-335-3484

Email: iihg@uiowa.edu

Follow us on Twitter: @IIHG_Genetics

www.medicine.uiowa.edu/humangenetics

Helpful Websites

Iowa Institute of Human Genetics (IIHG)

Information for patients, health care providers,

researchers and students.

>> www.medicine.uiowa.edu/humangenetics

Genetics Home Reference

Information about how genes affect your health: What

genes are, how they work, and how they can cause

illnesses.

>> www.ghr.nlm.nih.gov

National Human Genome Research Institute

Information on the Human Genome project, including the

latest research, educational materials, an explanation of the

Genetic Information Nondiscrimination Act (GINA), and your

rights concerning genetic discrimination.

>>www. genome.gov

Gene Tests

Information for health care providers on genetic

diseases, genetic tests and genetic clinics.

>>www. genetests.org

Online Mendelian Inheritance in Man ®

(OMIM)

An online catalog of human genes and genetic

diseases, genetic tests and genetic clinics.

>>http://omim.org

NextGxDx

A comprehensive catalog of genetic tests that

includes an easy-to-use search tool to compare

and to order genetic tests.

>>www.nextgxdx.com

KIDNEYSEQTM • IOWA INSTITUTE OF HUMAN GENETICS

Does the patient need to sign a consent form to have KidneySeqTM testing?

• No, KidneySeq™ is a clinical test and a consent form is

not required.

When will the results be available?

A KidneySeq™ report will be faxed to the ordering

healthcare provider within 12 weeks.

How will my patients understand the KidneySeqTM results?

• You will need to explain the results

to your patient.

• If you are interested in

assistance with this step,

the IIHG has a Certified

Genetic Counselor

who can assist you.

• You may also choose to

contact a genetic counselor in

your area. To do so, please visit:

>http://nsgc.org/p/cm/ld/fid=164

Is this test covered by insurance?

KidneySeq™ testing may or may not be covered.

Pre-authorization is recommended so that you can

explain to the provider why KidneySeq™ testing is

needed.

Why should I use KidneySeqTM?

• KidneySeq™ is ideal for patients who may benefit if

their cause of renal disease is discovered.

• KidneySeq™ is appropriate to validate a likely genetic

diagnosis, when there are several genetic possibilities,

or when there is uncertainty as to the genetic

diagnosis.

• KidneySeq™ should be considered as part of the

transplant evaluation of recipients to assess risk for

recurrent disease and to guide screening of living-

related donors.

What is the test methodology?• KidneySeq™ uses RNA baits to ‘capture’ over 170

genes that have been implicated in genetic renal

disease genes.

• The captured genes are sequenced using massively

parallel sequencing.

• All genes are captured and sequenced in every patient,

making KidneySeq™ very comprehensive.

• A list of KidneySeq™ genes and the diseases with

which they are associated can be found at:

>www.medicine.uiowa.edu/humangenetics/kidneyseq/

How do I order KidneySeqTM at UIHC?

• Place an order for KidneySeq™ by typing KidneySeq™

as a miscellaneous test in EPIC.

• Commercial Mailouts will ensure the test is sent to the

IIHG.

• You must also complete a requisition form as described

next.

What is required for KidneySeqTM testing?

• A completed requisition form. Forms are provided at:

>www. medicine.uiowa.edu/humangenetics/kidneyseq/

• 4-6cc whole blood in a lavender top tube for persons

over 10 years old

• 3-4cc whole blood in a lavender top tube for persons

age 10 years or younger

Common indications for testing include: 1. Testing for specific genetic renal diseases such as:

• Tubulointerstitial/cystic diseases, including but not

limited to polycystic kidney disease, medullary cystic

kidney disease, renal cysts and diabetes (MODY type 5),

other ciliopathies

• Glomerular diseases, including but not limited to

focal and segmental glomerulosclerosis, steroid resistant

nephrotic syndrome, Fabry disease, Alport syndrome

• Tubular ion transport, including but not limited to

Gitelman, Bartter, Familial Hyperkalemic Hypertension,

Renal Tubular Acidosis

• Certain congenital anomalies of the kidney and urinary

tract (CAKUT)

2. Establishing a possible cause in patients presenting with

atypical renal diseases.

3. Screening potential living related donors at risk for

genetic renal disease.